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Highly accurate long reads are crucial for realizing the potential of biodiversity genomics.
- Published in:
- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09193-9
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- Publication type:
- Article
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
- Published in:
- 2018
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- Publication type:
- journal article
Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics.
- Published in:
- Genome Biology & Evolution, 2011, v. 3, p. 1312, doi. 10.1093/gbe/evr106
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- Publication type:
- Article
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
- Published in:
- 2009
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- Correction notice
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 554, doi. 10.1038/ejhg.2008.231
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- Publication type:
- Article
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
- Published in:
- Human Mutation, 2008, v. 29, n. 4, p. 502, doi. 10.1002/humu.20677
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- Publication type:
- Article
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15.
- Published in:
- Journal of Neuroscience, 2006, v. 26, n. 26, p. 7022, doi. 10.1523/JNEUROSCI.1163-06.2006
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- Publication type:
- Article
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 1, doi. 10.1186/1471-2350-5-24
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- Publication type:
- Article
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3215, doi. 10.1093/hmg/ddg358
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- Publication type:
- Article
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 16, p. 2049, doi. 10.1093/hmg/ddg210
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- Publication type:
- Article
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.
- Published in:
- Human Genetics, 2002, v. 110, n. 6, p. 527, doi. 10.1007/s00439-002-0732-4
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- Publication type:
- Article
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
- Published in:
- Nature Genetics, 2002, v. 30, n. 3, p. 257, doi. 10.1038/ng848
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- Publication type:
- Article
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 535, doi. 10.1007/s004390100604
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- Publication type:
- Article
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
- Published in:
- Nature Genetics, 2000, v. 26, n. 4, p. 431, doi. 10.1038/82558
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- Publication type:
- Article
A Five-Generation Family with Late-Onset Progressive Hereditary Hearing Impairment Due to Cochleosaccular Degeneration.
- Published in:
- Audiology & Neurotology, 1997, v. 2, n. 3, p. 139, doi. 10.1159/000259237
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- Publication type:
- Article
Genotype-phenotype correlations in type 1 Waardenburg syndrome.
- Published in:
- 1996
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- Publication type:
- journal article
A Gene for Autosomal Dominant Late-Onset Progressive Non-Syndromic Hearing Loss, DFNA10, Maps to Chromosome 6.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 6, p. 853, doi. 10.1093/hmg/5.6.853
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- Publication type:
- Article
A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2391
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- Publication type:
- Article
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1967
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- Publication type:
- Article
The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 3, p. 215
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- Publication type:
- Article
STRUCTURAL FEATURES OF RED KIDNEY BEAN á-AMYLASE INHIBITOR IMPORTANT IN BINDING WITH á-AMYLASE.
- Published in:
- Journal of Food Biochemistry, 1984, v. 8, n. 3, p. 189, doi. 10.1111/j.1745-4514.1984.tb00324.x
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- Publication type:
- Article